title: Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.
abstract: Two members of a consanguineous Italian family are described with the symptoms of aspartylglycosaminuria. Both patients exhibit mental retardation, some facial dysmorphism and discrete radiological abnormalities affecting the skull and vertebrae. Peripheral blood smears revealed multivacuolated lymphocytes. Enzyme studies in leucocytes and cultured fibroblasts showed an absence of aspartylglucosaminidase activity. Urinary analysis demonstrated abnormal oligosacchariduria and aspartylglycosamine excretion. Angiokeratoma corporis diffusum was observed in one patient.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine; D000328:Adult; D000581:Amidohydrolases / Q000172:deficiency*; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000652:urine; D054880:Aspartylglucosaminuria; D002648:Child; D000795:Fabry Disease / Q000201:enzymology; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005944:Glucosamine / Q000031:analogs & derivatives*; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology* / Q000235:genetics; D007558:Italy; D008297:Male; D010375:Pedigree; D012886:Skull / Q000002:abnormalities
chemical_list: C000009:N-acetylglucosaminylasparagine; D001224:Aspartic Acid; D000581:Amidohydrolases; D005944:Glucosamine; D000117:Acetylglucosamine